Connective Tissue Disease, Amyloid, Sarcoid, Immune Related Multisystem Disorders

Question 1

Name an autoimmune condition with an organ specific with organ specific antibodies

Answer 1

Pernicious anaemia

Question 2

Name an autoimmune condition with an organ specific without organ specific antibodies

Answer 2

Primary biliary cirrhosis

Question 3

Name three multi-system autoimmune diseases (3)

Answer 3

Rheumatoid arthritis
Sjorgren’s syndrome
SLE

Question 4

What systems are affected in SLE (8)

Answer 4

Skin 
Oral ulcers
Joints 
Neurological 
Serositis
Renal 
Haematological 
Immunological

Question 5

What is positive in SLE

Answer 5

ANA (anti-nuclear antibody)

Question 6

What auto-antibodies are present in SLE (3)

Answer 6

Anti-dsDNA
Anti-smith (against ribonucleoproteins)
Anti-histone (drug related e.g. hydralazine)

Question 7

Where in the skin are auto-antibodies present

Answer 7

Dermal-epidermal junction

Question 8

What is seen in histology of the glomerulus in SLE

Answer 8

Wire loops (thickened pink glomerular capillary loops due to immune complex deposition)

Question 9

What is scleroderma (systemic sclerosis)

Answer 9

Fibrosis and excess collagen (localised form is called morphoea in the skin)

Question 10

What is the immunoflouresence pattern for scleroderma

Answer 10

Nucleolar pattern

Question 11

What antibodies are present in diffuse systemic sclerosis

Answer 11

DNA topisomerase (Scl70)

Question 12

What antibodies are present in limited cutaneous systemic sclerosis

Answer 12

Anticentremere antibody

Question 13

What is CREST syndrome present in

Answer 13

Limited cutaneous systemic sclerosis

Question 14

What are the feature of CREST syndrome (5)

Answer 14

Calcinosis 
Raynauds 
Eosophageal dysmotility 
Sclerodactyly 
Telangiectasia

Question 15

What are some clinical features of scleroderma on physical examination (5)

Answer 15

Scleroderma (tightened skin on hands and face)
Calcinosis - may be visible on ends of fingers (very painful)
Raynaud’s (blue - purple - white)
Nail fold capillary dilatation
Telangiecstasia

Question 16

What is the pathology in the skin of scleroderma

Answer 16

Increased dermal collagen resulting in reduced skin elasticity

Question 17

What causes oedophageal dysmotility in scleroderma

Answer 17

Collagen deposition in the submucosa causes fibrosis (leads to dysmotility)

Question 18

What changes occur in the arteries (histologically) in scleroderma

Answer 18

Onion skin - intimal thickening of small arteries

Question 19

What are some mixed connective tissue diseases (4)

Answer 19

SLE
Scleroderma
Polymyositis
Dermatomyositis

Question 20

What can be seen on the hands of a patient with dermatomyositis

Answer 20

Gottron’s papules

Question 21

What organ systems are involved in sarcoidosis (8)

Answer 21

Joints 
Skin 
Lungs 
Lymphadenopathy 
Heart 
Eyes
Neuro 
Liver

Question 22

What condition is lupus pernio associated with

Answer 22

Sarcoidosis

Question 23

What condition is erythema nodosum associated with

Answer 23

Sarcoidosis

Question 24

What are the skin manifestations of sarcoidosis (2)

Answer 24

Lupus pernio

Erythema nodosum

Question 25

What are the CNS manifestations of sarcoidosis (2)

Answer 25

Meningitis | Cranial nerve lesions

Question 26

What are the eye manifestations of sarcoidosis (2)

Answer 26

Uveitis | Keratoconjunctivitis

Question 27

What are the parotid involvement in sarcoidosis

Answer 27

Bilateral enlargement

Question 28

What are the lung involvement manifestations in sarcoidosis (3)

Answer 28

BHL Fibrosis Lymphocytosis (CD4+ in BAL)

Question 29

What are the liver manifestations of sarcoidosis (3)

Answer 29

Hepatitis Cholestasis Cirrhosis

Question 30

What are the histological hallmarks of sarcoidosis (3)

Answer 30

Non-necrotizing granulomas: histocytes (epithelial cells), multinucleated giant cells of langehans (peripheral nuclei) and lymphocytes

Question 31

What are the biochemical markers of sarcoidosis (3)

Answer 31

Hypergammaglobulinaemia Raised ACE Hypercalcaemia (Vitamin D hydroxylation by activated macrophages)

Question 32

How is vasculitis classified (4)

Answer 32

Large vessel vasculitis Medium vessel vasculitis Immune complex small vessel vasculitis ANCA- associated small vessel vasculitis

Question 33

What are the giant cells vasculitis (2)

Answer 33

Takayasu arteritis | Giant cell arteritis

Question 34

What are the medium cell vasculitis (2)

Answer 34

Polyarteritis nodosa | Kawasaki disease

Question 35

What are the immune complex small vessel vasculitis (3)

Answer 35

Cryoglobulinamic vasculitis IgA vasculitis (Henoch-Schonlein) Hypercomplementaemic urticarial vasculitis

Question 36

What are the ANCA-associated small vessel vasculitis (3)

Answer 36

Microscopic polyangitis Granulamatosis with polyangitis (Wegner's) Eosinophilic granulamatosis with polyangitis (Churg-Strauss)

Question 37

What are the histological features of temporal arteritis (2)

Answer 37

Chronic lymphocytic inflammation in the media, giant cells. | Narrowing of the lumen

Question 38

What are the clinical features of kawasaki's disease (6)

Answer 38

``` Fever Erythema of palms and soles, desquamation Conjunctivitis Lymphadenopathy Coronary arteries may be affected (MI) Otherwise disease is self-limiting ```

Question 39

What are the pathological features of polyarteritis nodosa (6)

Answer 39

Necrotising arteritis Polymorphs, lymphocytes, eosinophils Arteritis is focal and sharply demarcated Heals by fibrosis More often renal and mesenteric arteries Nodular appearance on angiography (small aneurysms)

Question 40

What antibody is present in granulamatosis with polyangitis

Answer 40

c-ANCA

Question 41

What does c-ANCA indicate

Answer 41

c-ANCA directed against proteinase 3

Question 42

What organ systems are affected by granulamatosis with polyangitis (3)

Answer 42

ENT Kidneys Lungs

Question 43

What antibody is present in eosinophilic granulamatosis with polyangitis

Answer 43

p-ANCA

Question 44

What is p-ANCA directed against

Answer 44

Myeloperoxidase

Question 45

What are the manifestations of eosinophilic granulomatosis with polyangitis (3)

Answer 45

Asthma Eosinophilia Vasculitis

Question 46

p-ANCA

Answer 46

Eosinophilic granulomatosis with polyangitis

Question 47

c-ANCA

Answer 47

Granulomatosis with polyangitis